Variants
ADA variants
Predicted effect: Frameshift. The one ADA variant of the 27 with a page here. Its page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| V133Sfs*38 | c.396dup | Exon 5 | 44,625,650 | Pathogenic | 3 stars out of 4 reviewed by expert panel |